ClinVar Miner

List of variants in gene NIPBL studied for See cases

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Total variants: 5
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 5p13.2(chr5:36916860-36960223)x1
GRCh37/hg19 5p13.2(chr5:36916860-36960224)x1
NM_133433.4(NIPBL):c.4699C>T (p.Gln1567Ter)
NM_133433.4(NIPBL):c.6588A>G (p.Leu2196=) rs2149733797
NM_133433.4(NIPBL):c.6975T>C (p.Ala2325=) rs1400161680

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